Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in ten subjects determined by direct sequencing of amplified transcripts.

Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is an inborn error of purine metabolism. Mutant HPRT gene sequences from patients deficient in enzyme activity have previously been characterized by cDNA cloning or amino acid sequencing techniques. The presence of HPRT-specific mRNA i...

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Publicado en:	J Clin Invest
Autores principales:	Davidson, B L, Tarlé, S A, Palella, T D, Kelley, W N
Formato:	Artigo
Lenguaje:	Inglês
Publicado:	American Society for Clinical Investigation 1989
Materias:	Research Article
Acceso en línea:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC303988/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2738157/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI114160
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